TY - JOUR
TI - Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty
AU - Theodoropoulou, S.
AU - Papadopoulou, A.
AU - Karapanou, O.
AU - Priftis, K.
AU - Papaevangelou, V.
AU - Papadimitriou, A.
JO - Endocrine Development
PY - 2021
VL - 73
TODO - 2
SP - 455-462
PB - Springer-Verlag
SN - null
TODO - 10.1007/s12020-021-02695-0
TODO - estrogen receptor alpha;  follitropin, adult;  Article;  birth weight;  body mass;  breast development;  case control study;  child;  controlled study;  disease severity;  DNA isolation;  female;  gene;  gene frequency;  gene linkage disequilibrium;  genetic association;  genetic polymorphism;  genotype;  homozygosity;  human;  major clinical study;  menarche;  nuclear magnetic resonance imaging;  obesity;  peripheral blood mononuclear cell;  phenotype;  polymerase chain reaction;  prospective study;  puberty;  restriction fragment length polymorphism;  school child;  single nucleotide polymorphism;  genetic polymorphism;  genetics;  precocious puberty;  puberty, Adult;  Estrogen Receptor alpha;  Female;  Genotype;  Humans;  Polymorphism, Genetic;  Puberty;  Puberty, Precocious
TODO - Purpose: Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty Methods: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene. Results: There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017. Conclusion: XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height. © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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